Expanding the phenotype associated with 17q12 duplication: case report and review of the literature
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Expanding the phenotype associated with 17q12 duplication: case report and review of the literature. / Bierhals, Tatjana; Maddukuri, Satish Babu; Kutsche, Kerstin; Girisha, Katta Mohan.
In: AM J MED GENET A, Vol. 161A, No. 2, 01.02.2013, p. 352-9.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Expanding the phenotype associated with 17q12 duplication: case report and review of the literature
AU - Bierhals, Tatjana
AU - Maddukuri, Satish Babu
AU - Kutsche, Kerstin
AU - Girisha, Katta Mohan
N1 - Copyright © 2013 Wiley Periodicals, Inc.
PY - 2013/2/1
Y1 - 2013/2/1
N2 - The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often presumed to be pathogenic and inherited ones from a healthy parent likely to be not relevant for the phenotype. However, it is difficult to draw such a conclusion for an inherited copy number variation not known to be a common variation. We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father. Copy number variations in this chromosomal region are thought to be pathogenic and associated with various phenotypes including developmental delay, growth retardation, seizures, renal disease, and diabetes mellitus. We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also share our thoughts on submicroscopic complexity that may underlie, at least in part, the wide range of phenotypes in patients with 17q12 duplication.
AB - The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often presumed to be pathogenic and inherited ones from a healthy parent likely to be not relevant for the phenotype. However, it is difficult to draw such a conclusion for an inherited copy number variation not known to be a common variation. We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father. Copy number variations in this chromosomal region are thought to be pathogenic and associated with various phenotypes including developmental delay, growth retardation, seizures, renal disease, and diabetes mellitus. We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also share our thoughts on submicroscopic complexity that may underlie, at least in part, the wide range of phenotypes in patients with 17q12 duplication.
KW - Abnormal Karyotype
KW - Abnormalities, Multiple
KW - Child, Preschool
KW - Chromosome Duplication
KW - Chromosomes, Human, Pair 17
KW - Developmental Disabilities
KW - Gene Dosage
KW - Humans
KW - Male
KW - Molecular Diagnostic Techniques
KW - Phenotype
KW - Seizures
U2 - 10.1002/ajmg.a.35730
DO - 10.1002/ajmg.a.35730
M3 - SCORING: Journal article
C2 - 23307502
VL - 161A
SP - 352
EP - 359
JO - AM J MED GENET A
JF - AM J MED GENET A
SN - 1552-4825
IS - 2
ER -